Variant report

Variant	rs57426028
Chromosome Location	chr17:20905722-20905723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20903178..20905982-chr17:20906732..20909453,3	K562	blood:
2	chr17:20903595..20905991-chr17:20912235..20915117,2	MCF-7	breast:
3	chr17:20896404..20898523-chr17:20904680..20906876,2	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1478790	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417257	1.00[EUR][1000 genomes]
rs28544372	1.00[EUR][1000 genomes]
rs28548984	1.00[EUR][1000 genomes]
rs28555976	1.00[EUR][1000 genomes]
rs28590301	1.00[EUR][1000 genomes]
rs28705738	1.00[EUR][1000 genomes]
rs28706545	1.00[EUR][1000 genomes]
rs28711112	1.00[EUR][1000 genomes]
rs28756004	1.00[EUR][1000 genomes]
rs4073723	1.00[EUR][1000 genomes]
rs4073724	1.00[EUR][1000 genomes]
rs55714915	1.00[EUR][1000 genomes]
rs55990927	1.00[EUR][1000 genomes]
rs57971292	1.00[EUR][1000 genomes]
rs58152760	1.00[EUR][1000 genomes]
rs58546457	1.00[AMR][1000 genomes]
rs59922030	1.00[EUR][1000 genomes]
rs60386298	1.00[EUR][1000 genomes]
rs61227646	1.00[EUR][1000 genomes]
rs61743471	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7211016	1.00[EUR][1000 genomes]
rs7211514	1.00[EUR][1000 genomes]
rs7215714	1.00[EUR][1000 genomes]
rs7219817	1.00[EUR][1000 genomes]
rs73982372	1.00[EUR][1000 genomes]
rs73982382	1.00[EUR][1000 genomes]
rs73982388	1.00[EUR][1000 genomes]
rs73982389	1.00[EUR][1000 genomes]
rs73982391	1.00[EUR][1000 genomes]
rs73982392	1.00[EUR][1000 genomes]
rs73982397	1.00[EUR][1000 genomes]
rs8067039	1.00[EUR][1000 genomes]
rs8068540	1.00[EUR][1000 genomes]
rs9890829	1.00[EUR][1000 genomes]
rs9893176	1.00[EUR][1000 genomes]
rs9900107	1.00[EUR][1000 genomes]
rs9901703	1.00[EUR][1000 genomes]
rs9902219	1.00[EUR][1000 genomes]
rs9906418	1.00[EUR][1000 genomes]
rs9907218	1.00[EUR][1000 genomes]
rs9912912	1.00[EUR][1000 genomes]
rs9913829	1.00[EUR][1000 genomes]
rs9914233	1.00[EUR][1000 genomes]
rs9915724	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:20899200-20908600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:20900200-20924000	Strong transcription	Fetal Stomach	stomach
4	chr17:20900400-20906000	Genic enhancers	Stomach Smooth Muscle	stomach
5	chr17:20900600-20907000	Genic enhancers	Fetal Muscle Trunk	muscle
6	chr17:20900600-20932400	Strong transcription	Fetal Intestine Small	intestine
7	chr17:20900800-20925600	Strong transcription	Fetal Brain Female	brain
8	chr17:20900800-20932200	Strong transcription	Brain Germinal Matrix	brain
9	chr17:20901400-20912200	Strong transcription	Primary B cells from cord blood	blood
10	chr17:20901400-20925200	Strong transcription	Fetal Lung	lung
11	chr17:20901400-20932600	Strong transcription	Thymus	Thymus
12	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:20901600-20905800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:20901600-20908800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:20901800-20906000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
16	chr17:20901800-20908600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:20901800-20908600	Strong transcription	HUVEC	blood vessel
18	chr17:20901800-20929400	Strong transcription	GM12878-XiMat	blood
19	chr17:20901800-20932000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:20901800-20932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:20901800-20932400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:20902000-20906000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:20902000-20925200	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr17:20902000-20932600	Strong transcription	Fetal Intestine Large	intestine
26	chr17:20902000-20935400	Strong transcription	Dnd41	blood
27	chr17:20902200-20906600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:20902200-20907400	Genic enhancers	NHLF	lung
29	chr17:20902200-20918600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr17:20902200-20925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:20902200-20932400	Strong transcription	Fetal Thymus	thymus
32	chr17:20902200-20932600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr17:20902400-20906000	Genic enhancers	HSMM	muscle
34	chr17:20902400-20906800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:20902400-20907000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:20902400-20927000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:20902400-20931600	Strong transcription	HMEC	breast
38	chr17:20902400-20932200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr17:20902400-20932200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:20902400-20932600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr17:20902600-20906000	Weak transcription	Small Intestine	intestine
42	chr17:20902600-20907600	Strong transcription	Spleen	Spleen
43	chr17:20902600-20908600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:20902600-20924200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:20902600-20925400	Strong transcription	NHEK	skin
46	chr17:20902600-20932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:20902600-20932200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr17:20902600-20932400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr17:20902600-20932800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr17:20902800-20909600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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